Distal trisomy 14 (q24 --> qter) and aorto-pulmonary window: a case report and review of the literature.

Perrin, Y.; Addor, M.C.; Sekarski, N.; Gaide, A.C.; Schorderet, D.F.

doi:10.1016/S0003-3995(02)01135-8

Distal trisomy 14 (q24 --> qter) and aorto-pulmonary window: a case report and review of the literature.

Détails

Demande d'une copie

ID Serval

serval:BIB_E1FDAFD9B1A8

Type

Article: article d'un périodique ou d'un magazine.

Sous-type

Etude de cas (case report): rapporte une observation et la commente brièvement.

Collection

Publications

Institution

UNIL/CHUV

Titre

Distal trisomy 14 (q24 --> qter) and aorto-pulmonary window: a case report and review of the literature.

Périodique

Annales de Génétique

Auteur⸱e⸱s

Perrin Y., Addor M.C., Sekarski N., Gaide A.C., Schorderet D.F.

ISSN

0003-3995

Statut éditorial

Publié

Date de publication

2002

Peer-reviewed

Oui

Volume

Numéro

Pages

173-175

Langue

anglais

Résumé

A newborn female with partial trisomy for the distal part of the long arm of the chromosome 14 (14q24 --> qter) resulting from a paternal balanced translocation (3;14) is described. We compare her phenotype with eight other individuals with trisomy 14q24 --> qter.

Mots-clé

Aorta, Chromosomes, Human, Pair 14, Female, Humans, Infant, Newborn, Karyotyping, Lung, Syndrome, Trisomy

OAI-PMH

oai:serval.unil.ch:BIB_E1FDAFD9B1A8

DOI

10.1016/S0003-3995(02)01135-8

Pubmed

12668162

Web of science

000181918900002

Création de la notice

28/02/2008 12:52